Muscle And Nerve Disease Flashcards

1
Q

What are the common presentations of muscle disorders?

A
Weakness of skeletal muscle 
Short of breath (weakness of respiratory muscle)
Poor swallowing (causing aspiration)
Cardiomyopathy , arrhythmias 
Cramp
Pain
Stiffness
Myoglobinuria
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2
Q

What are the common presentations not of babies with muscle disorders?

A

Poor suck and feeding
Failure to thrive
Floppy

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3
Q

What are their common signs of muscle disease?

A

Wasting/hypertrophy of muscles
Normal or reduces tone and reflexes
Myotone
Motor weakness

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4
Q

What are the common investigations for assessing muscle disorders?

A
History and examination 
Creating kinase (CK)
EMG
Muscle biopsy 
Genetic testing
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5
Q

is inflammatory muscle disease an example of a congenital or acquired muscle disease?

A

acquired

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6
Q

what is the pathology of muscular dystrophies?

A

cell degeneration - high creatinine kinase (CK)

lose all dystrophin

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7
Q

what is the difference between duchesses MD and Bekers MD?

A

duchesses muscular dystrophy shows loss of all dystrophin

in beckers there is only partial loss of dystrophin as well as abnormal dystrophin

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8
Q

what does myotonic dystrophy present commonly with?

A

cataract esp in people under 50yrs

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9
Q

what is the main feature of myotonic dystrophy?

A

muscles contract and are unable to relax

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10
Q

what channels are affected in familial hypokalaemia periodic paralysis?

A

Na, Ca, K

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11
Q

what channel is affected in hyperkalaemic periodic paralysis?

A

Na

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12
Q

what channel is affected in myotonia congenita?

A

Cl

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13
Q

what muscle diseases are the Na channels affected?

A

familial hypokalaemia periodic paralysis
hyperkalaemic periodic paralysis
paramyotonic congenita

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14
Q

in what type of muscle disease would you experience symptoms after short bursts of exercise?

A

disorders of carbohydrate metabolism - glycogenosis

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15
Q

in what type of muscle disease would you experience symptoms after a long endurance exercise?

A

disorders of lipid (fatty acid) metabolism

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16
Q

in what metabolic muscle disease would you find systemic and constant symptoms?

A

mitochondrial myopathies / cytopathies

17
Q

name 2 inflammatory muscle diseases.

A

polymyositis

dernatomyositis

18
Q

what investigations would you carry out for inflammation muscle disease?

A

Creatinine kinase (high)
EMG
biopsy

19
Q

what would the biopsy show if it was positive for inflammatory muscle disease?

A

polymyositis - T cells and CD8 cells

dermatomyositis - B cells and CD4 cells

20
Q

what is the treatment for inflammatory muscle diseases?

A

immunosuppression

21
Q

what type of muscle diseases are paramyotonic congenital and myotonia congenital and whats the difference between the two?

A

channelopathies
paramyotonia congenita is due to Na channels
myotonia congenital is due to Cl channels

22
Q

what is the pathophysiology of myasthenia gravis?

A

autoimmune disorders in which the body produces an antibody against the ACh receptors so no neurotransmitter is released
results in not being able to contract muscle

23
Q

what is the clinical presentation of myasthenia gravis?

A
fatiguable weakness which progresses as the day goes on;
in the limbs 
eyelids = ptosis 
talking
swallowing 
shortness of breath 
diplopia 
muscles of mastication
24
Q

what investigations are used to diagnose myasthenia gravis?

A

ACh receptor antibody
anti-MuSK antibody
assess neurophysiology by repetitive stimulation
CT chest - check for thymoma

25
Q

what is the treatment for myasthenia gravis?

A

symptomatic - acetylcholinesterase inhibitor
immunosuppression
immunoglobulin / plasma exchange
thymectomy

26
Q

what drugs are given for immunosuppression to treat myasthenia gravis?

A

prednisolone & steroid saving agent

27
Q

what are some of the causes of generalised peripheral neuropathy?

A
hereditary
vit B12 deficiency 
diabetes
alcohol 
renal
drugs
infection: Lyme, leprosy 
paaneoplastic 
inflammatory demyelinating - Guillian Barre syndrome (acute) or chronic inflammatory
28
Q

what are the symptoms and signs of disease/damage of the nerve root?

A

myotomal wasting and weakness
reflex change
dermatomal sensory change

29
Q

what are the symptoms and signs if there is damage to an individual peripheral nerve?

A

wasting and weakness o innervated muscle

specific sensory change

30
Q

what are the symptoms and signs of generalised peripheral neuropathy such as Guillian Barre syndrome?

A

ascending paralysis with sensory involvement (motor & sensory)
(this is because longest nerves are affected first)

31
Q

what investigations are carried out to diagnose disorders of peripheral nerves?

A
blood tests i.e. TFT, LFT, renal test
B12 test 
genetic analysis 
nerve conduction tests
lumbar puncture 
nerve biopsy (usually for determining extent of treatment)
32
Q

what is amyotrophic lateral sclerosis and what type of neurological disease is it?

A

amyotrophic lateral sclerosis means no muscle nutrition.

it is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord

33
Q

what part of the spinal cord is affected in amyotrophic lateral sclerosis and what effects does this have?

A

affects the anterior horn

therefor affects the motor neurones

34
Q

what is the presentation of someone with amyotrophic lateral sclerosis?

A

usually affects the limbs then blubber i.e. swallowing then respiratory

there is a combination of UMN and LMN signs;
LMN = fasciculations, wasting and weakness
UMN = increased tone, brisk reflexes

no sensory involvement

35
Q

how is motor neurone disease diagnosed?

A

combination of UMN and LMN signs

EMG

36
Q

what is the treatment for motor neurone disease?

A

supportive i.e. PEG feeding, non-invasive ventilation, OT, SALT, physiology, care

Riluzole

palliative care

37
Q

what is the prognosis for motor neurone disease?

A

3-5 yrs survival after symptom onset
2-3yrs after diagnosis
50% die within 14 months of diagnosis

38
Q

what is the treatment for gillian barre syndrome?

A

IV immunoglobulins